Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency-Reference-Cited by-同舟云学术

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Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency

Published:2016-09-19 Issue:10 Volume:14 Page:1994-2000
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Branchini A.¹²^ORCID,Ferrarese M.¹,Lombardi S.¹,Mari R.³,Bernardi F.¹²,Pinotti M.¹²

Affiliation:

1. Department of Life Sciences and Biotechnology; University of Ferrara; Ferrara Italy

2. LTTA Center; University of Ferrara; Ferrara Italy

3. Department of Medical Sciences; Center for Hemostasis and Thrombosis; Hematology Section; University of Ferrara; Ferrara Italy

Funder

Telethon-Italy

PFIZER EuroAspire

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jth.13443/fullpdf

Reference23 articles.

1. Mice lacking factor VII develop normally but suffer fatal perinatal bleeding;Rosen;Nature,1997

2. Polypeptide chain termination and stop codon readthrough on eukaryotic ribosomes;Rospert;Rev Physiol Biochem Pharmacol,2005

3. Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII;Pinotti;J Thromb Haemost,2006

4. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system;Manuvakhova;RNA,2000

5. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system;Keeling;J Mol Med (Berl),2002

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical, Laboratory, and Molecular Aspects of Factor VII Deficiency;Seminars in Thrombosis and Hemostasis;2024-08-29

2. Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report;Molecular Genetics & Genomic Medicine;2024-07

3. In vitro and ex vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency;Journal of Thrombosis and Haemostasis;2024-02

4. Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association;Haematologica;2022-08-04

5. Translation termination codons in protein synthesis and disease;Disorders of Protein Synthesis;2022

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